Canonical Allele Identifier: CA327270

Gene: CFTR

Linked Data

• dbSNP Id: rs397508601
• MyVariant Identifiers: chr7:g.117282513G>C (hg19) ; chr7:g.117642459G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642459G>C , CM000669.2:g.117642459G>C	GRCh38
NC_000007.13:g.117282513G>C , CM000669.1:g.117282513G>C	GRCh37
NC_000007.12:g.117069749G>C	NCBI36
NG_016465.4:g.181676G>C , LRG_663:g.181676G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3539G>C	ENSP00000497673.2:p.Trp1180Ser
ENST00000647978.2:c.*3453G>C	ENSP00000497658.1:n.*3453G>C
ENST00000649781.2:c.3556G>C	ENSP00000497203.1:p.Gly1186Arg
ENST00000685018.2:c.3739G>C	ENSP00000510194.2:p.Gly1247Arg
ENST00000687278.2:c.*392G>C	ENSP00000509593.2:n.*392G>C
ENST00000699585.1:c.3539G>C	ENSP00000514456.1:p.Trp1180Ser
ENST00000699598.1:c.3739G>C	ENSP00000514467.1:p.Gly1247Arg
ENST00000699599.1:c.3739G>C	ENSP00000514468.1:p.Gly1247Arg
ENST00000699600.1:c.*400G>C	ENSP00000514469.1:n.*400G>C
ENST00000699601.1:c.*2114G>C	ENSP00000514470.1:n.*2114G>C
ENST00000699602.1:c.3733G>C	ENSP00000514471.1:p.Gly1245Arg
ENST00000699604.1:c.*3563G>C	ENSP00000514472.1:n.*3563G>C
ENST00000699605.1:c.3313G>C	ENSP00000514473.1:p.Gly1105Arg
ENST00000685018.1:c.487G>C	ENSP00000510194.1:p.Gly163Arg
ENST00000687278.1:c.1526G>C	ENSP00000509593.1:n.1526G>C
ENST00000689011.1:c.321G>C
ENST00000003084.11:c.3739G>C MANE Select	ENSP00000003084.6:p.Gly1247Arg
ENST00000647720.1:c.1189G>C
ENST00000649781.1:c.3556G>C	ENSP00000497203.1:p.Gly1186Arg
ENST00000003084.10:c.3739G>C	ENSP00000003084.6:p.Gly1247Arg
ENST00000426809.5:c.3649G>C	ENSP00000389119.1:p.Gly1217Arg
NM_000492.3:c.3739G>C , LRG_663t1:c.3739G>C	NP_000483.3:p.Gly1247Arg
XM_011515751.1:c.3829G>C	XP_011514053.1:p.Gly1277Arg
XM_011515752.1:c.3829G>C	XP_011514054.1:p.Gly1277Arg
XM_011515753.1:c.3496G>C	XP_011514055.1:p.Gly1166Arg
XM_011515754.1:c.3496G>C	XP_011514056.1:p.Gly1166Arg
NM_000492.4:c.3739G>C MANE Select	NP_000483.3:p.Gly1247Arg